A genome-wide association study identifies genetic loci associated with specific lobar brain volumes

被引：22

作者：

van Der Lee, Sven J. ^{[1
]}

Knol, Maria J. ^{[1
]}

Chauhan, Ganesh ^{[2
,3
]}

Satizabal, Claudia L. ^{[4
,5
,6
]}

Smith, Albert Vernon ^{[7
,8
]}

Hofer, Edith ^{[9
,10
]}

Bis, Joshua C. ^{[11
]}

Hibar, Derrek P. ^{[12
]}

Hilal, Saima ^{[1
,13
,14
,15
]}

van den Akker, Erik B. ^{[16
,17
,18
]}

Arfanakis, Konstantinos ^{[19
,20
]}

Bernard, Manon ^{[21
]}

Yanek, Lisa R. ^{[22
]}

Amin, Najaf ^{[1
]}

Crivello, Fabrice ^{[23
]}

Cheung, Josh W. ^{[12
]}

Harris, Tamara B. ^{[24
]}

Saba, Yasaman ^{[25
]}

Lopez, Oscar L. ^{[26
]}

Li, Shuo ^{[27
]}

van Der Grond, Jeroen ^{[28
]}

Yu, Lei ^{[20
]}

Paus, Tomas ^{[29
,30
,31
]}

Roshchupkin, Gennady, V ^{[1
,15
,32
]}

Amouyel, Philippe ^{[33
]}

Jahanshad, Neda ^{[12
]}

Taylor, Kent D. ^{[34
]}

Yang, Qiong ^{[27
]}

Mathias, Rasika A. ^{[22
]}

Boehringer, Stefan ^{[18
]}

Mazoyer, Bernard ^{[23
]}

Rice, Ken ^{[35
]}

Cheng, Ching Yu ^{[36
]}

Maillard, Pauline ^{[37
]}

van Heemst, Diana ^{[38
]}

Wong, Tien Yin ^{[36
]}

Niessen, Wiro J. ^{[32
,39
]}

Beiser, Alexa S. ^{[5
,6
,27
]}

Beekman, Marian ^{[16
]}

Zhao, Wanting ^{[36
]}

Nyquist, Paul A. ^{[40
]}

Chen, Christopher ^{[13
,14
]}

Launer, Lenore J. ^{[24
]}

Psaty, Bruce M. ^{[11
,41
,42
,43
]}

Ikram, M. Kamran ^{[1
,44
]}

Vernooij, Meike W. ^{[1
,15
]}

Schmidt, Helena ^{[25
]}

Pausova, Zdenka ^{[21
,45
,46
]}

Becker, Diane M. ^{[22
]}

De Jager, Philip L. ^{[47
,48
]}

机构：

[1] Univ Med Ctr, Dept Epidemiol, Erasmus MC, NL-3015 CN Rotterdam, Netherlands

[2] Univ Bordeaux, Bordeaux Populat Hlth Res Ctr, INSERM UMR 1219, F-33000 Bordeaux, France

[3] Indian Inst Sci, Ctr Brain Res, Bangalore 560012, Karnataka, India

[4] UT Hlth San Antonio, Glenn Biggs Inst Alzheimers & Neurodegenerat Dis, San Antonio, TX 78229 USA

[5] Boston Univ, Sch Med, Boston, MA 02118 USA

[6] Framingham Heart Dis Epidemiol Study, Boston, MA 02118 USA

[7] Iceland Heart Assoc, IS-201 Kopavogur, Iceland

[8] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland

[9] Med Univ Graz, Dept Neurol, Clin Div Neurogeriatr, A-8036 Graz, Austria

[10] Med Univ Graz, Inst Med Informat Stat & Documentat, A-8036 Graz, Austria

[11] Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98101 USA

[12] Univ Southern Calif, Imaging Genet Ctr, Mark & Mary Stevens Neuroimaging & Informat Inst, Keck Sch Med, Los Angeles, CA 90292 USA

[13] Natl Univ Singapore, Dept Pharmacol, Singapore 117600, Singapore

[14] Natl Univ Hlth Syst, Memory Aging & Cognit Ctr, Singapore 119228, Singapore

[15] Univ Med Ctr, Dept Radiol & Nucl Med, Erasmus MC, NL-3015 CN Rotterdam, Netherlands

[16] Leiden Univ, Dept Biomed Data Sci, Sect Mol Epidemiol, Med Ctr, NL-2333 ZA Leiden, Netherlands

[17] Delft Univ Technol, Pattern Recognit & Bioinformat, NL-2628 XE Delft, Netherlands

[18] Leiden Univ, Dept Biomed Data Sci, Stat Genet, Med Ctr, NL-2333 ZA Leiden, Netherlands

[19] IIT, Dept Biomed Engn, Chicago, IL 60616 USA

[20] Rush Univ, Med Ctr, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA

[21] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[22] Johns Hopkins Sch Med, Dept Med, GeneSTAR Res Program, Baltimore, MD 21205 USA

[23] Bordeaux Univ, Neurofunct Imaging Grp, Neurodegenerat Dis Inst, UMR 5293,Team 5,CEA,CNRS, F-33076 Bordeaux, France

[24] NIA, Lab Epidemiol & Populat Sci, Intramural Res Program, NIH, Bethesda, MD 20892 USA

[25] Med Univ Graz, Res Unit Genet Epidemiol, Gottfried Schatz Res Ctr Cell Signaling Metab & A, A-8010 Graz, Austria

[26] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15260 USA

[27] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA

[28] Leiden Univ, Dept Radiol, Med Ctr, NL-2333 ZA Leiden, Netherlands

[29] Holland Bloorview Kids Rehabil Hosp, Bloorview Res Inst, Toronto, ON M4G 1R8, Canada

[30] Univ Toronto, Dept Psychol, Toronto, ON M5S 1A1, Canada

[31] Univ Toronto, Dept Psychiat, Toronto, ON M5S 1A1, Canada

[32] Erasmus MC Univ, Dept Med Informat, Med Ctr, NL-3015 CN Rotterdam, Netherlands

[33] Univ Lille, INSERM, CHU Lille, Inst Pasteur Lille,LabEx DISTALZ,UMR1167,RID AGE, F-59000 Lille, France

[34] Harbor UCLA Med Ctr, Dept Pediat, LABioMed, Inst Translat Genom & Populat Sci, Torrance, CA 90502 USA

[35] Univ Washington, Dept Biostat, Seattle, WA 98195 USA

[36] Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 169857, Singapore

[37] Univ Calif Davis, Imaging Dementia & Aging IDeA Lab, Davis, CA 95817 USA

[38] Leiden Univ, Med Ctr, Dept Gerontol & Geriatr, NL-2333 ZA Leiden, Netherlands

[39] Delft Univ Technol, Fac Appl Sci, NL-2629 HZ Delft, Netherlands

[40] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[41] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA

[42] Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA

[43] Kaiser Permanente Washington Hlth Res Inst, Seattle, WA 98101 USA

[44] Univ Med Ctr, Dept Neurol, Erasmus MC, NL-3015 CN Rotterdam, Netherlands

[45] Univ Toronto, Hosp Sick Children, Dept Physiol, Toronto, ON M5G 1X8, Canada

[46] Univ Toronto, Hosp Sick Children, Dept Nutr Sci, Toronto, ON M5G 1X8, Canada

[47] Columbia Univ, Ctr Translat & Computat Neuroimmunol, Med Ctr, New York, NY 10032 USA

[48] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA

[49] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

[50] Univ Hosp Bordeaux, Dept Neurol, F-33000 Bordeaux, France

来源：

COMMUNICATIONS BIOLOGY | 2019年 / 2卷 / 1期

关键词：

METAANALYSIS; HERITABILITY; CORTEX; RISK; MORPHOLOGY; REGIONS; DISEASE; DAAM1;

D O I：

10.1038/s42003-019-0537-9

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.

引用

页数：9

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